PackGene and GC4K Team Up Along with Weill Cornell Medicine for Gene Therapy to Treat Rare Neurological Disease

Cagkan - stock.adobe.com

Editor's note: this story was originally published on BioPharm International.com.

US contract research organization and contract development and manufacturing organization PackGene Biotech has entered into a collaboration with Genetic Cures for Kids (GC4K), an Australian non-profit group, and the Belfer Gene Therapy Core Facility at Weill Cornell Medicine, to deliver an accessible, custom-tailored gene therapy solution for treating hereditary spastic paraplegia type 56 (SPG56), an ultra-rare neurological disease, PackGene announced on Jan. 8, 2025.

Under the alliance, the team will use adeno-associated virus serotype 9 (AAV9) to deliver the healthy gene directly into patient cells. PackGene specializes in providing comprehensive services, including plasmid DNA, viral vector, and messenger RNA production as well as supporting programs from research stage to commercialization. PackGene has pledged to subsidize costs and fast-track the development of a clinical-grade gene therapy for SPG56. Meanwhile, Weill Cornell Medicine’s Belfer Gene Therapy Core Facility has tailored its AAV manufacturing capabilities to serve small, patient-driven projects.

“Our work at the Belfer Gene Therapy Core Facility is driven by a commitment to making gene therapy accessible to all patients, especially those with rare diseases [such as] SPG56,” said Stephen M. Kaminsky, professor of Research in Genetic Medicine at Weill Cornell Medicine, in a press release (1).

SPG56 is a progressive, degenerative disorder that typically begins in early childhood (2). This global alliance was prompted by the parents of Tallulah Moon, a young child who suffers from the disease. The parents founded GC4K in an effort to find a cure for their daughter. Children lose motor and cognitive abilities as the disease progresses. From the start, diagnosing SPG56 can be an uphill battle, especially considering that genetic testing is limited in its ability to detect the disease due to its ultra-rare nature. According to the press release, fewer than one in a million people worldwide are diagnosed, and most families are left with no treatment options (1).

This collaboration between PackGene, Weill Cornell Medicine, and GC4K is meant to show that ultra-rare diseases can draw international attention, funding, and breakthrough innovations in a pharmaceutical industry where large patient populations and high-return therapies are often prioritized, according to the press release. This project uses “top-tier science” to deliver tailored solutions for such a small population of children and is an approach that can be replicated for thousands of other conditions that are currently “too rare” to draw significant investment (1).

“Together with my colleague Professor Dolan Sondhi, our long-established track record in supporting therapeutic development programs, combined with our expertise in AAV vector manufacturing, is being harnessed to potentially deliver life-changing treatments for Tallulah. This effort also serves as an example for addressing thousands of other rare genetic conditions,” Kaminsky said in the release.

This initiative has potential to go beyond a single disease such as SPG56. GC4K aims to create a replicable framework to address more than 7000 other genetic conditions that currently have no cure.

“Our collaboration with Genetic Cures for Kids and Weill Cornell Medicine’s Belfer Gene Therapy Core Facility is a testament to the power of compassion paired with scientific excellence,” said Xin Swanson, PhD, chief scientific officer, PackGene Biotech, in the release. “We are leveraging our expertise not just to create plasmid DNA and AAV vectors, but to reshape the future landscape of gene therapy—making it affordable, accessible, and deeply human.”

“As the mother of a child living with SPG56, I’ve come to understand that families like ours are not just fighting diseases—we’re fighting for the attention, resources, and urgency that our children’s lives deserve,” said Golden Whitrod, founder of Genetic Cures for Kids and mother to Tallulah Moon, in the release. “Until governments seriously invest in the credible and worthwhile market of personalized medicine, family foundations like ours will continue to lead the charge. But we cannot do it alone. The generosity and philanthropy of companies [such as] PackGene and institutions [such as] Weill Cornell Medicine remind us that compassion and innovation can change the world, one life at a time.”

References

1. PackGene Biotech. A Global Alliance to Save Lives: How Two Parents and PackGene Are Redefining What’s Possible in Gene Therapy with Help from Weill Cornell Medicine. Press Release. Jan. 8, 2025.
2. Wong, S. S-N.; Yuen, L. Y-P.; Kan, E.; et al. CYP2U1: An Emerging Treatable Neurometabolic Disease with Cerebral Folate Deficiency in 2 Chinese Brothers. Mol. Genet. Metab. Rep. 2024, 38, 101023. DOI: 10.1016/j.ymgmr.2023.101023